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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA046646
Gene: APOB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1732220
ClinVar RCV Id:
RCV002459276
dbSNP Id:
rs749178868
ExAC:
2:21228287 G / T
gnomAD v2:
2-21228287-G-T
MyVariant Identifiers:
chr2:g.21228287G>T (hg19)
chr2:g.21005415G>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.21005415G>T , CM000664.2:g.21005415G>T
GRCh38
NC_000002.11:g.21228287G>T , CM000664.1:g.21228287G>T
GRCh37
NC_000002.10:g.21081792G>T
NCBI36
NG_011793.1:g.43659C>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000233242.5:c.11453C>A
MANE Select
ENSP00000233242.1:p.Ser3818Tyr
ENST00000616098.4:c.11453C>A
ENSP00000477990.1:p.Ser3818Tyr
NM_000384.2:c.11453C>A
NP_000375.2:p.Ser3818Tyr
XM_011532809.1:c.5869+5318C>A
XP_011531111.1:n.5869+5318C>A
NM_000384.3:c.11453C>A
MANE Select
NP_000375.3:p.Ser3818Tyr
Search 100 bp 5'
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